ClinVar Miner

Variants in gene CACNA1H with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 50
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val) rs58597457 0.00137
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe) rs186422070 0.00083
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr) rs200520956 0.00036
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) rs200813987 0.00031
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val) rs368835582 0.00031
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) rs199693105 0.00027
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn) rs371925462 0.00022
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg) rs200606995 0.00022
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647 0.00021
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) rs60040113 0.00011
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) rs375017750 0.00006
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met) rs755669926 0.00006
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu) rs768197900 0.00005
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly) rs200939989 0.00005
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) rs1325999341 0.00004
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=) rs771972820 0.00004
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) rs769636919 0.00002
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser) rs767275498 0.00002
NM_021098.3(CACNA1H):c.4350+6T>C rs367545564 0.00001
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser) rs367594144 0.00001
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg) rs1357838162 0.00001
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg) rs754154177 0.00001
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val) rs776161185 0.00001
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr) rs948561024
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn) rs200687647
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys) rs548097951
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) rs370996432
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln) rs200399120
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe) rs746267333

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